PRRT2 Chromosome 16
Proline rich transmembrane protein 2
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What This Gene Does
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Dispanins
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000167371
Associated Conditions (21)
Episodic kinesigenic dyskinesia
Inborn genetic diseases
PRRT2-related disorder
Seizures
benign familial infantile
2
Episodic kinesigenic dyskinesia 1
Infantile convulsions and choreoathetosis
PRRT2-associated paroxysmal movement disorder
Seizure
Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis
Benign familial neonatal-infantile seizures 1
Paroxysmal nonkinesigenic dyskinesia 1
PRRT2 insufficiency
PRRT2-Associated Paroxysmal Movement Disorders
Neurodevelopmental delay
Self-limited familial infantile epilepsy
See cases
Convulsions
Autosomal dominant PRRT2-related disorders
+1 more conditions
Key Variants
RS1053144630
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1057518890
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS11556732
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, PRRT2-related disorder
Health Risk
RS1301400509
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 2
Health Risk
RS1317648011
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1319381076
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS140383655
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Seizures
Health Risk
RS144540943
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1468206811
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS147004110
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS1555502624
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS200185554
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
All Variants (159)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS906768870 | Health Risk | Pathogenic | Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia |
| RS1239450803 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia, Seizures, benign familial infantile |
| RS1260966131 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia |
| RS2142423353 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial infantile, 2 |
| RS2466344219 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia 1, Seizures, benign familial infantile |
| RS397514579 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia 1, Seizures, benign familial infantile |
| RS587778771 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia, Seizures |
| RS730882124 | Health Risk | Pathogenic/Likely pathogenic | Seizures, benign familial infantile, 2 |
| RS796052941 | Health Risk | Pathogenic/Likely pathogenic | Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia 1, Seizures |